The role of lysosomes in metabolic and autoimmune diseases

F Gros, S Muller - Nature Reviews Nephrology, 2023 - nature.com
Lysosomes are catabolic organelles that contribute to the degradation of intracellular
constituents through autophagy and of extracellular components through endocytosis …

Antifibrotic agents for the management of CKD: a review

M Ruiz-Ortega, S Lamas, A Ortiz - American Journal of Kidney Diseases, 2022 - Elsevier
Kidney fibrosis is a hallmark of chronic kidney disease (CKD) and a potential therapeutic
target. However, there are conceptual and practical challenges to directly targeting kidney …

A single genetic locus controls both expression of DPEP1/CHMP1A and kidney disease development via ferroptosis

Y Guan, X Liang, Z Ma, H Hu, H Liu, Z Miao… - Nature …, 2021 - nature.com
Genome-wide association studies (GWAS) have identified loci for kidney disease, but the
causal variants, genes, and pathways remain unknown. Here we identify two kidney disease …

ACSS2 gene variants determine kidney disease risk by controlling de novo lipogenesis in kidney tubules

D Mukhi, L Li, H Liu, T Doke… - The Journal of …, 2024 - Am Soc Clin Investig
Worldwide, over 800 million people are affected by kidney disease, yet its pathogenesis
remains elusive, hindering the development of novel therapeutics. In this study, we used …

Functional characterization of human genomic variation linked to polygenic diseases

T Fabo, P Khavari - Trends in Genetics, 2023 - cell.com
The burden of human disease lies predominantly in polygenic diseases. Since the early
2000s, genome-wide association studies (GWAS) have identified genetic variants and loci …

Transcriptome-and proteome-wide association studies nominate determinants of kidney function and damage

P Schlosser, J Zhang, H Liu, AL Surapaneni, EP Rhee… - Genome biology, 2023 - Springer
Background The pathophysiological causes of kidney disease are not fully understood. Here
we show that the integration of genome-wide genetic, transcriptomic, and proteomic …

Activation of GPER1 in macrophages ameliorates UUO-induced renal fibrosis

L Xie, Y Cheng, W Du, L Fu, Z Wei, Y Guan… - Cell Death & …, 2023 - nature.com
Numerous studies have proven the critical role of macrophages in the renal fibrosis process.
Notably, G Protein-coupled Estrogen Receptor 1 (GPER1), a novel estrogen receptor, has …

[HTML][HTML] Mechanisms of ferroptosis in chronic kidney disease

WQ Zhuo, Y Wen, HJ Luo, ZL Luo… - Frontiers in Molecular …, 2022 - frontiersin.org
Ferroptosis is a newly identified form of regulated cell death characterized by iron
accumulation and lipid peroxidation. Ferroptosis plays an essential role in the pathology of …

[HTML][HTML] Mapping of the gene network that regulates glycan clock of ageing

A Frkatović-Hodžić, A Mijakovac, K Miškec… - Aging (Albany …, 2023 - ncbi.nlm.nih.gov
Glycans are an essential structural component of immunoglobulin G (IgG) that modulate its
structure and function. However, regulatory mechanisms behind this complex …

Gaining insight into metabolic diseases from human genetic discoveries

M Claussnitzer, K Susztak - Trends in Genetics, 2021 - cell.com
Human large-scale genetic association studies have identified sequence variations at
thousands of genetic risk loci that are more common in patients with diverse metabolic …